MTHFR基因多态性与脑卒中的关系

Relation between MTHFR and brain stroke

目的 探讨同型半胱氨酸代谢过程的关键酶之一-甲烯四氢叶酸还原(MTHFR)基因多态性与脑卒中发病的关系。方法采用PCR技术和限制性内切酶片段长度多态性方法检测患者的MTHFR基因C677T位碱基突变。结果MTHFR基因C677T突变型等位基因(T)频率在病例组和对照组中有显著性差异(x2=5.01,P<0.05),TT、CT两种基因型频率无显著性差异,而CC基因型频率在两组有显著性差异。基因型频率的相对风险分析,CT基因型比CC基因型患脑卒中风险高2.09倍,TT基因型比CC基因型患脑卒中风险高3.00倍。结论 MTHFR基因突变型等位基因与脑卒中有一定的关联,突变基因型增加了脑卒中的发病风险。

Objective To discuss the relation between MTHFR gene (one of the key enzyme in the metabolism process of homotype cysteine) and brain stroke. Methods To test patient's gene mutation in MTHFR gene C677T using PCR -RFLP. Results It was obvious difference between experiment and control group in MTHFR gene C677T mutation allele (T) frequency, but TT, CT had not obvious difference, CC had obvious difference. In gene frequency relative risk analyse, CT gene type had higher risk than CC gene type in brain stroke and TT gene type higher than CC gene type. Conclusion MTHFR gene mutation allele is related to brain stroke, mutation gene type increase the risk of brain stroke.